Tyrosyl-DNA Phosphodiesterase 1

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OMIM Number

607198

NCBI Gene ID

55775

Uniprot ID

Q9NUW8

Length

89,797 bases

No. of Exons

20

No. of isoforms

2

Protein Name

Tyrosyl-DNA phosphodiesterase 1

Molecular Mass

68420 Da

Amino Acid Count

608

Genomic Location

chr14:89,954,968-90,044,764

Gene Map Locus
14q32.11

Description

The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [From RefSeq]

Epidemiology in the Arab World

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